The genetics of microdeletion and microduplication syndromes: an update. (Q35765523)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24773319%20AND%20SRC:MED&resulttype=core&format=json

16 March 2020

title

The genetics of microdeletion and microduplication syndromes: an update (English)

1 reference

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16 March 2020

2

1 reference

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16 March 2020

Corey T Watson

series ordinal

1

1 reference

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16 March 2020

author name string

Andrew J Sharp

series ordinal

3

1 reference

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16 March 2020

Heather C Mefford

series ordinal

4

1 reference

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16 March 2020

publication date

16 April 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24773319%20AND%20SRC:MED&resulttype=core&format=json

Annual Review of Genomics and Human Genetics

16 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24773319%20AND%20SRC:MED&resulttype=core&format=json

16 March 2020

volume

15

1 reference

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16 March 2020

page(s)

215-244

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Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder

16 March 2020

cites work

1 reference

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Replicative mechanisms for CNV formation are error prone

2 October 2017

1 reference

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Transmission disequilibrium of small CNVs in simplex autism

2 October 2017

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Mouse model implicates GNB3 duplication in a childhood obesity syndrome

2 October 2017

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Evolution and diversity of copy number variation in the great ape lineage

2 October 2017

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Great ape genetic diversity and population history

2 October 2017

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Deleterious alleles in the human genome are on average younger than neutral alleles of the same frequency

2 October 2017

1 reference

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Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder

2 October 2017

1 reference

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Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma

2 October 2017

1 reference

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Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.

2 October 2017

1 reference

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Differential relationship of DNA replication timing to different forms of human mutation and variation

2 October 2017

1 reference

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An integrated map of genetic variation from 1,092 human genomes

2 October 2017

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Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts

2 October 2017

1 reference

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Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth

2 October 2017

1 reference

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Three-dimensional genome architecture influences partner selection for chromosomal translocations in human disease

2 October 2017

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Phenotypic heterogeneity of genomic disorders and rare copy-number variants

2 October 2017

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An integrated encyclopedia of DNA elements in the human genome

2 October 2017

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A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

2 October 2017

1 reference

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Using ERDS to infer copy-number variants in high-coverage genomes

2 October 2017

1 reference

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Limitations of the human reference genome for personalized genomics

2 October 2017

1 reference

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Structural diversity and African origin of the 17q21.31 inversion polymorphism

2 October 2017

1 reference

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Structural haplotypes and recent evolution of the human 17q21.31 region

2 October 2017

1 reference

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Noninvasive whole-genome sequencing of a human fetus.

2 October 2017

1 reference

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Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots.

2 October 2017

1 reference

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Copy number variation detection and genotyping from exome sequence data

2 October 2017

1 reference

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Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148

2 October 2017

1 reference

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Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

2 October 2017

1 reference

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Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing

2 October 2017

1 reference

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CONTRA: copy number analysis for targeted resequencing

2 October 2017

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Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

2 October 2017

1 reference

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Spatial organization of the mouse genome and its role in recurrent chromosomal translocations

2 October 2017

1 reference

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Chromosome 15q24 microdeletion syndrome

2 October 2017

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Rare copy number variants are an important cause of epileptic encephalopathies

2 October 2017

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Further clinical and molecular delineation of the 15q24 microdeletion syndrome

2 October 2017

1 reference

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De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia.

2 October 2017

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Noninvasive prenatal diagnosis of a fetal microdeletion syndrome

2 October 2017

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Copy number variation detection in whole-genome sequencing data using the Bayesian information criterion

2 October 2017

1 reference

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Simultaneous structural variation discovery among multiple paired-end sequenced genomes

2 October 2017

1 reference

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Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over

2 October 2017

1 reference

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Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats

2 October 2017

1 reference

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A copy number variation morbidity map of developmental delay

2 October 2017

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Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV

2 October 2017

1 reference

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Understanding the impact of 1q21.1 copy number variant

2 October 2017

1 reference

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Chromosomal microarray testing influences medical management

2 October 2017

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Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders

2 October 2017

1 reference

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Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

2 October 2017

1 reference

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Mapping copy number variation by population-scale genome sequencing

2 October 2017

1 reference

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Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes

2 October 2017

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Haplotype-resolved genome sequencing of a Gujarati Indian individual.

2 October 2017

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A human genome structural variation sequencing resource reveals insights into mutational mechanisms

2 October 2017

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Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.

2 October 2017

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Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia

2 October 2017

1 reference

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Diversity of human copy number variation and multicopy genes

2 October 2017

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A map of human genome variation from population-scale sequencing

2 October 2017

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Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond-Blackfan anaemia

2 October 2017

1 reference

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Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis

2 October 2017

1 reference

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PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans

2 October 2017

1 reference

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A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk

2 October 2017

1 reference

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Functional impact of global rare copy number variation in autism spectrum disorders

2 October 2017

1 reference

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Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies

2 October 2017

1 reference

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Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

2 October 2017

1 reference

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Characterization of missing human genome sequences and copy-number polymorphic insertions

2 October 2017

1 reference

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Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes

2 October 2017

1 reference

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Complete Khoisan and Bantu genomes from southern Africa

2 October 2017

1 reference

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A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

2 October 2017

1 reference

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PRDM9 is a major determinant of meiotic recombination hotspots in humans and mice

2 October 2017

1 reference

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A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder

2 October 2017

1 reference

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Large, rare chromosomal deletions associated with severe early-onset obesity

2 October 2017

1 reference

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Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis

2 October 2017

1 reference

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Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

2 October 2017

1 reference

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Copy number variations of chromosome 16p13.1 region associated with schizophrenia

2 October 2017

1 reference

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Mechanisms of change in gene copy number

2 October 2017

1 reference

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Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

2 October 2017

1 reference

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Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

2 October 2017

1 reference

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Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes

2 October 2017

1 reference

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The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

2 October 2017

1 reference

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A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease

2 October 2017

1 reference

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Duplication hotspots, rare genomic disorders, and common disease

2 October 2017

1 reference

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Segmental duplications mediate novel, clinically relevant chromosome rearrangements

2 October 2017

1 reference

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Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

2 October 2017

1 reference

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Characterization of six human disease-associated inversion polymorphisms

2 October 2017

1 reference

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Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

2 October 2017

1 reference

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Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects

2 October 2017

1 reference

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Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.

2 October 2017

1 reference

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Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.

2 October 2017

1 reference

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Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome

2 October 2017

1 reference

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A genome-wide investigation of SNPs and CNVs in schizophrenia

2 October 2017

1 reference

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Over half of breakpoints in gene pairs involved in cancer-specific recurrent translocations are mapped to human chromosomal fragile sites

2 October 2017

1 reference

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Support for the involvement of large copy number variants in the pathogenesis of schizophrenia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Population analysis of large copy number variants and hotspots of human genetic disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Evolutionary toggling of the MAPT 17q21.31 inversion region

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

The diploid genome sequence of an Asian individual

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Emerging themes and new challenges in defining the role of structural variation in human disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Large recurrent microdeletions associated with schizophrenia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Rare chromosomal deletions and duplications increase risk of schizophrenia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Mapping and sequencing of structural variation from eight human genomes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

The complete genome of an individual by massively parallel DNA sequencing

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Structural variation of chromosomes in autism spectrum disorder

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Association between microdeletion and microduplication at 16p11.2 and autism

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Recurrent 16p11.2 microdeletions in autism

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Germline rates of de novo meiotic deletions and duplications causing several genomic disorders

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Strong association of de novo copy number mutations with autism

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Characterization of a recurrent 15q24 microdeletion syndrome.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Global variation in copy number in the human genome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Human lineage-specific amplification, selection, and neuronal expression of DUF1220 domains

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Inherited focal, episodic neuropathies: hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Diagnostic genome profiling in mental retardation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Segmental duplications and copy-number variation in the human genome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Fine-scale structural variation of the human genome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

A common inversion under selection in Europeans

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Detection of large-scale variation in the human genome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Large-scale copy number polymorphism in the human genome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Mutator genes for suppression of gross chromosomal rearrangements identified by a genome-wide screening in Saccharomyces cerevisiae

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

The constitutional t(17;22): another translocation mediated by palindromic AT-rich repeats

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Recent segmental duplications in the human genome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Genome architecture, rearrangements and genomic disorders

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Positive selection of a gene family during the emergence of humans and African apes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

AT-rich palindromes mediate the constitutional t(11;22) translocation.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

A common molecular basis for rearrangement disorders on chromosome 22q11

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Molecular genetics of facioscapulohumeral muscular dystrophy (FSHD)

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Inversion of the IDS gene resulting from recombination with IDS-related sequences in a common cause of the Hunter syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Molecular genetics of inherited variation in human color vision

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Evaluation of PRDM9 variation as a risk factor for recurrent genomic disorders and chromosomal non-disjunction

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Mutation spectrum revealed by breakpoint sequencing of human germline CNVs

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Sensitive and accurate detection of copy number variants using read depth of coverage

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

A burst of segmental duplications in the genome of the African great ape ancestor

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Gross chromosomal rearrangements in Saccharomyces cerevisiae replication and recombination defective mutants

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Mosaicism for del(17)(p11.2p11.2) underlying the Smith-Magenis syndrome.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

A chimaeric llβ-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Critical role of Yp inversion in PRKX/PRKY-mediated Xp;Yp translocation in a patient with 45,X testicular disorder of sex development.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Detection of clinically relevant copy number variants with whole-exome sequencing

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Chromosomal microarray impacts clinical management

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Detection of microdeletion 22q11.2 in a fetus by next-generation sequencing of maternal plasma

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

A mechanism for gene-environment interaction in the etiology of congenital scoliosis.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Penetrance for copy number variants associated with schizophrenia

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Deletions and duplications of the 15q11-q13 region in spermatozoa from Prader-Willi syndrome fathers.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Specific pathways prevent duplication-mediated genome rearrangements

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Identification of candidate genes for sporadic amyotrophic lateral sclerosis by array comparative genomic hybridization.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative g

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Ancestral reconstruction of segmental duplications reveals punctuated cores of human genome evolution.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Effects of a functional COMT polymorphism on prefrontal cognitive function in patients with 22q11.2 deletion syndrome

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Array-based comparative genomic hybridization for genome-wide screening of DNA copy number in bladder tumors.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

NF1 microdeletion breakpoints are clustered at flanking repetitive sequences

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: implications for a role of chromatin structure in the pathogenesis of the disease.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

An emerging phenotype of interstitial 15q25.2 microdeletions: Clinical report and review

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats

15 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Cryptic Chromosomal Abnormalities Identified in Children With Congenital Heart Disease

15 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476258

Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes

15 November 2018

1 reference

12 December 2020

Long AT-rich palindromes and the constitutional t(11;22) breakpoint

1 reference

12 December 2020

Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions

1 reference

12 December 2020

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1 reference

12 December 2020

Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion

1 reference

12 December 2020

Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion

1 reference

12 December 2020

Y chromosome (Yq11) microdeletions in idiopathic azoospermia

1 reference

12 December 2020

Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints

1 reference

12 December 2020

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

1 reference

12 December 2020

Detection of copy number variation using SNP genotyping

1 reference

12 December 2020

10.1146/ANNUREV-GENOM-091212-153408

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24773319%20AND%20SRC:MED&resulttype=core&format=json

16 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24773319%20AND%20SRC:MED&resulttype=core&format=json

16 March 2020

PubMed publication ID

24773319

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24773319%20AND%20SRC:MED&resulttype=core&format=json